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1.
Prev Vet Med ; 227: 106207, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38626595

ABSTRACT

Responsible companion animal guardianship (RCAG) covers aspects that are relevant to both animal and human health. Understanding the factors associated with adherence to RCAG principles can guide accountability, animal welfare and disease control. The present observational study describes the level of adherence to RCAG by guardians living in a medium-sized Brazilian municipality and identifies the factors associated with inadequate guardianship. Questionnaires were administered to randomly selected guardians of 704 dogs. The binary outcome of the study, namely more and less adequate compliers to RCAG principles, was analyzed using a score list comprising eight variables relating to the care provided to the dogs, namely provision of veterinary services, vaccination against rabies, deworming, no access to the streets without supervision, walking with guardian, dog freedom at home, registration (microchipping) and satisfactory food supply. Factors possibly associated with less adequate adherence to RCAG by the guardian, such as socioeconomic and cultural features of the guardians, characteristics of the dogs and attributes of the guardian-animal interactions, were analyzed using multiple logistic regression models. The RCAG actions least adopted by guardians were animal registration, provision of veterinary care, walking with the dog and preventing access of the dogs to the streets without supervision. Individuals who cared for a single dog, a mixed breed dog or had previously lost a dog were less likely to show adequate adherence to RCAG. Conversely, guardians who owned cars, acquired dogs as puppies, lived in households with a maximum of four residents, cared for a sterilized dog or thought that caring for a dog was easier than (or as) expected, had a higher chance of showing adequate adherence to RCAG. The results verify that the socioeconomic and behavioral characteristic of guardians must be taken into consideration for understanding the adherence to RCAG. In addition, it is important to facilitate access to veterinary services and to raise awareness about the significance of a safe and healthy environment for companion animals.


Subject(s)
Animal Welfare , Animals , Brazil , Dogs , Male , Humans , Female , Pets , Ownership/statistics & numerical data , Surveys and Questionnaires , Adult
2.
Med Princ Pract ; 33(3): 173-184, 2024.
Article in English | MEDLINE | ID: mdl-38484713

ABSTRACT

Helicobacter pylori infection is a significant global health concern. It cannot be diagnosed based solely on the patient's medical history and symptoms, and laboratory and imaging tests are often required to confirm the diagnosis. Both noninvasive and invasive methods are available for diagnosing H. pylori infection, including conventional and advanced detection techniques. It is not uncommon for patients to present with false-negative results due to the use of inadequate investigation methodologies, which prevents the adoption of appropriate clinical management. Thus, an analysis of the literature regarding the methods of diagnosis of H. pylori, with its advantages and disadvantages, is necessary. Publications in specialized scientific journals will undoubtedly contribute to facilitating access by professionals interested in the topic providing greater knowledge and potentially clinically useful guidance. In this review, the authors have sought to analyze and summarize the invasive and noninvasive methods, their applications, limitations, and the conditions that affect the sensitivity of the tests used for diagnosing H. pylori, an essential step for the successful treatment of this infection. It is essential to treat all patients infected with H. pylori. This represents a significant change in the approach, as the treatment was recommended previously only for patients showing symptoms of infection. Therefore, it is crucial to understand the limitations of traditional diagnostic methods and help raise awareness among healthcare professionals about the latest advances in diagnosing this important bacterium.


Subject(s)
Helicobacter Infections , Helicobacter pylori , Humans , Helicobacter Infections/diagnosis , Sensitivity and Specificity , Breath Tests/methods
3.
Article in English | MEDLINE | ID: mdl-38409720

ABSTRACT

BACKGROUND: Visceral leishmaniasis (VL) is a zoonotic disease, with dogs being the main reservoir of the Leishmania infantum parasite. OBJECTIVE: To develop a new flow cytometry test to diagnosis canine VL (CVL) diagnosis. METHODS: The current study addresses a new flow cytometry test using beads coupled to the multiepitope antigen rMELEISH. RESULTS: In the study set of samples a sensitivity (87.1%) and specificity (89.9%) was observed. Considering the dogs' clinical status, 20/20 (100.0%) of the symptomatic sera tested positive, while 19/22 (86.4%) of the oligosymptomatic and 16/20 (80.0%) of asymptomatic were positive. In the non-infected control, all samples (0/30) tested as negative. In the cross-reaction control, the test was more efficient in dogs infected with L. braziliensis (2/10) and Trypanosoma cruzi (0/10), than those with Babesia canis (4/10) and Ehrlichia canis (4/10). Dogs immunized with different vaccines (Leishmune, Leish-Tec®, or LBSap) did not present serological reactivity. CONCLUSION: The flow cytometry serology through coupling the antigen rMELEISH in functional beads showed high accuracy in diagnosing CVL.

4.
J Environ Sci Health B ; 59(4): 131-141, 2024.
Article in English | MEDLINE | ID: mdl-38314812

ABSTRACT

Small slaughterhouses generate biowaste, which for economic reasons, is generally destined for composting. Inoculating appropriate microorganisms can improve biodegradation efficiency and mitigate odor generation during the composting process and can give rise to composts with neutral or pleasant odors. Therefore, the aim of this study was to compare the odor intensity reduction of compost generated with and without a formulated inoculum (Saccharomyces cerevisiae, Bacillus subtilis, and Rhodopseudomonas palustris). A set of experimental data was collected and analyzed according to the German "Verein Deutscher Ingenieure" odor protocol. The results showed that adding microorganisms was effective in reducing unpleasant odors in all three composts generated from swine, cattle, and poultry slaughterhouse by-products during both summer and winter seasons. Additionally, soil odor was predominant in composts that were inoculated in the two tested seasons (i.e., summer and winter). On the other hand, composts without inoculation had odors similar to peat for swine compost, ammonia for cattle compost, and manure for poultry compost, regardless of the season tested. Overall, composting process with appropriate inoculum can help in the correct disposal of slaughterhouse wastes by transforming organic matter into composts, which can have economic and environmental value as a soil conditioner and/or fertilizer.


Subject(s)
Composting , Animals , Cattle , Swine , Abattoirs , Odorants/prevention & control , Soil , Biodegradation, Environmental , Manure
5.
Genes (Basel) ; 14(10)2023 10 23.
Article in English | MEDLINE | ID: mdl-37895325

ABSTRACT

We evaluated the growth performance of pacu and tambaqui and their reciprocal hybrids (tambacu and paqui) under different feeding programs. We raised 30 individuals from each species and their respective crosses, distributing them into three replicate cages with 10 individuals each. Throughout the 5-month experimental period, the fish were weighed six times while exposed to diverse feeding regimens involving three commercial diets with varying combinations of crude protein (CP) levels: 24%, 28%, and 32%. Growth curves were adjusted using nonlinear models. The evaluation period was insufficient for adjusting the logistic model for the tambaqui and paqui treatments with the highest initial protein intake. Pure pacu had a higher (p < 0.05) growth rate (k = 0.0185) than in the tambacu hybrid (k = 0.0134) and proved to have an early performance since animals from this group reached their weight at inflection faster. Despite growing more slowly, tambacu reached a higher (p < 0.05) final weight (A = 1137.12) than in the pacu (A = 889.12). Among the feeding programs, animals that received less CP showed greater growth potential; however, longer evaluation is important to verify if the initial CP intake has no significant positive effect on fish growth.


Subject(s)
Characiformes , Nonlinear Dynamics , Animals , Characiformes/genetics , Diet
6.
Mem Inst Oswaldo Cruz ; 118: e230071, 2023.
Article in English | MEDLINE | ID: mdl-37729273

ABSTRACT

BACKGROUND: Leishmania RNA virus 1 (LRV1) is commonly found in South American Leishmania parasites belonging to the subgenus Viannia, whereas Leishmania RNA virus 2 (LRV2) was previously thought to be restricted to the Old-World pathogens of the subgenus Leishmania. OBJECTIVES: In this study, we investigated the presence of LRV2 in strains of Leishmania (L.) infantum, the causative agent of visceral leishmaniasis (VL), originating from different hosts, clinical forms, and geographical regions. METHODS: A total of seventy-one isolates were screened for LRV2 using semi-nested reverse transcription-polymerase chain reaction (RT-PCR) targeting the RNA-dependent RNA polymerase (RdRp) gene. FINDINGS: We detected LRV2 in two L. infantum isolates (CUR268 and HP-EMO) from canine and human cases, respectively. MAIN CONCLUSIONS: To the best of our knowledge, this is the first detection of LRV2 in the New World.


Subject(s)
Leishmania infantum , Leishmaniasis, Visceral , Humans , Animals , Dogs , Leishmania infantum/genetics , Leishmaniasis, Visceral/veterinary , Brazil , RNA-Dependent RNA Polymerase
7.
Environ Sci Pollut Res Int ; 30(50): 108635-108648, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37752395

ABSTRACT

To understand which type of hospital waste may contain the highest amount of antibiotic resistant microorganisms that could be released into the environment, the bacterial strains entering and leaving a hospital wastewater treatment plant (HWTP) were identified and tested for their antibiotic susceptibility. To achieve this goal, samples were collected from three separate sites, inlet and outlet wastewater positions, and sludge generated in a septic tank. After microbiological characterization according to APHA, AWWA, and WEF protocols, the relative susceptibility of the bacterial strains to various antibiotic agents was assessed according to the Clinical and Laboratory Standards Institute guidelines, to determine whether there were higher numbers of resistant bacterial strains in the inlet wastewater sample than in the outlet wastewater and sludge samples. The results showed more antibiotic resistant bacteria in the sludge than in the inlet wastewater, and that the Enterobacteriaceae family was the predominant species in the collected samples. The most antibiotic-resistant families were found to be Streptococcacea and non-Enterobacteriaceae. Some bacterial strains were resistant to all the tested antibiotics. We conclude that the studied HWTP can be considered a source of resistant bacterial strains. It is suggested that outlet water and sludge generated in HWTPs should be monitored, and that efficient treatment to eliminate all bacteria from the different types of hospital waste released into the environment is adopted.


Subject(s)
Sewage , Wastewater , Humans , Sewage/microbiology , Bacteria , Anti-Bacterial Agents/pharmacology , Hospitals
8.
Arch Psychiatr Nurs ; 45: 54-60, 2023 08.
Article in English | MEDLINE | ID: mdl-37544702

ABSTRACT

BACKGROUND: The occupational activities carried out in hospital environments pose occupational risks to professionals. In psychiatric hospitals, due to the characteristics of the patients treated, professionals are also subjected to other risks, such as physical aggression. OBJECTIVE: This research aimed to identify the systemic context, highlighting the cause-and-effect relationships that culminate in occupational accidents that occurred with the nursing staff in a psychiatric hospital in Brazil. METHODS: The current study is an applied research and was divided into three stages. First, the collection of data related to the case study was made and accidents were analyzed and occupational hazards were identified. In the second stage, from the collected information, occupational safety indicators were defined. Lastly, in the third stage, the qualitative aspect of System Dynamics was applied to perform the systemic analysis and to identify how the different variables were related. RESULTS: The results showed that physical aggression was the main cause of accidents. Regarding safety indicators, while both the level of use of Personal Protective Equipment (PPE) by professionals and the high level of PPE protection were positive aspects, the level of training of professionals to use PPE was a negative aspect. The Causal Link Diagram (CLD) showed that the perception of risk influenced the level of use of PPE and those organizational measures influenced the accident rate. CONCLUSION: In conclusion, the systemic analysis of the system dynamics can optimize the diagnostic process of occupational accidents in psychiatric hospitals, and especially help to identify the cause and effect among the variables involved.


Subject(s)
Nursing Staff , Occupational Health , Humans , Accidents, Occupational/prevention & control , Hospitals, Psychiatric , Brazil
9.
Animals (Basel) ; 13(5)2023 Feb 24.
Article in English | MEDLINE | ID: mdl-36899681

ABSTRACT

Understanding the distribution of dogs in the environment is relevant for establishing human and animal health actions. In the present study, we analyzed the influence of community feeders and commercial food outlets on the spatial distribution of free-roaming dogs in an urban area of a municipality in Southeast Brazil. The dogs were identified via photographic capture and recapture performed over five sampling efforts. The spatial densities of dogs were determined using the Kernel method. Spatial correlations between the distribution of free-roaming dogs and the locations of community feeders and commercial food outlets were analyzed using the K function. During the study, 1207 captures/recaptures were performed encompassing 554 dogs, the majority (62.6%) of which were males. Agglomerations of male and female dogs were observed in the areas where food was present. Positive spatial autocorrelations were detected between the distribution of dogs and food sources. The median distances between dogs and community feeders or commercial food outlets were 1.2 and 1.4 km, respectively, and the difference between these two was statistically significant. The presence of community feeders and food outlets demonstrates the influence of human activity, on the spatial distribution of free-roaming dogs. These results will be useful for developing strategies aimed at the improvement of animal welfare and the prevention of zoonoses.

10.
Pathogens ; 12(2)2023 Feb 11.
Article in English | MEDLINE | ID: mdl-36839574

ABSTRACT

BACKGROUND: visceral leishmaniasis (VL) is a critical public health problem in over ninety countries. The control measures adopted in Brazil have been insufficient when it comes to preventing the spread of this overlooked disease. In this context, a precise diagnosis of VL in dogs and humans could help to reduce the number of cases of this disease. Distinct studies for the diagnosis of VL have used single recombinant proteins in serological assays; however, the results have been variable, mainly in relation to the sensitivity of the antigens. In this context, the development of multiepitope-based proteins could be relevant to solving such problem. METHODS: a chimeric protein (rMELEISH) was constructed based on amino acid sequences from kinesin 39 (k39), alpha-tubulin, and heat-shock proteins HSP70 and HSP 83.1, and tested in enzyme-linked immunosorbent (ELISA) for the detection of L. infantum infection using canine (n = 140) and human (n = 145) sera samples. RESULTS: in the trials, rMELEISH was able to discriminate between VL cases and cross-reactive diseases and healthy samples, with sensitivity and specificity values of 100%, as compared to the use of a soluble Leishmania antigenic extract (SLA). CONCLUSIONS: the preliminary data suggest that rMELEISH has the potential to be tested in future studies against a larger serological panel and in field conditions for the diagnosis of canine and human VL.

11.
Article in English | MEDLINE | ID: mdl-36734197

ABSTRACT

The literature reports the presence of multiresistant microorganisms in wastewater discharged from municipal and hospital wastewater treatment plants (WWTPs). This has led to questions concerning the disinfection efficiency of the treatments applied. Thus, this study aimed to assess the efficiency of different chemical oxidation methods to disinfect and to degrade bacterial plasmids present in hospital wastewaters, to avoid the dispersion of antibiotic resistance genes in the environment. The methods tested were UV254nm alone or associated with an Ag or Ti-photocatalyst in photo-peroxonization (UV254 nm/H2O2/O3/Ag2O/Ag2CO3@PU or UV254 nm/H2O2/O3/TiO2@PU) under different pH conditions (4, 7, and 10). The application of plasmid DNA electrophoresis to hospital wastewater treated using an advanced oxidation process (AOP) achieved the total structural denaturation of microorganism plasmids at the three pH values tested. Also, UV254 nm alone was partially efficient in the disinfection of hospital wastewater. AOPs performed with the two functionalized catalysts resulted in 100% disinfection after 10 min at the three pH values tested. No intact plasmids were observed after 20 min of treatment with photocatalysis. This study could contribute to the development and improvement of wastewater treatment aimed at mitigating the spread of multiresistant microorganisms in the environment.


Subject(s)
Water Pollutants, Chemical , Water Purification , Wastewater , Hydrogen Peroxide/chemistry , DNA , Bacteria/genetics , Plasmids/genetics , Oxidation-Reduction , Hospitals , Water Purification/methods , Disinfection/methods
12.
Mol Cell Biochem ; 478(11): 2445-2450, 2023 Nov.
Article in English | MEDLINE | ID: mdl-36790551

ABSTRACT

Leishmaniasis is a zoonotic disease with worldwide distribution. In the Americas, the causative agent of the visceral form is the protozoa Leishmania (Leishmania) infantum. Transmission to the host or vertebrate reservoir occurs through the bite of infected arthropod females like Lutzomyia longipalpis. The epidemiological connection between the infection in dogs and humans generate constant studies about the relationship between the parasite and the canine host, including the development of methods and tests for the detection and quantification ofLeishmania (L.) infantum. Both conventional PCR (cPCR) and quantitative PCR (qPCR) can be used in the diagnosis of the parasite. Dropet Digital PCR (ddPCR) is another useful tool. Knowing the parasite load and its relationship with the clinical signs of naturally infected dogs is useful in research development and for establishing treatments that reduce the transmission of the disease. In this study, thirty-nine clinical samples of spleen from dogs naturaly infected by L. infantum were collected after necropsy. Two molecular tools were used to quantify the parasite load (qPCR and ddPCR) and there was 100% agreement in the results of the them. The tools developed in this work are important for the detection of L. infantum in dogs and humans. Droplet Digital PCR does not require a standard curve and is easy to standardize. In such manner, this new tool can generate more in-depth information in the broad debate about parasitic loads and the pathogenesis of leishmaniasis.

13.
Mem. Inst. Oswaldo Cruz ; 118: e230071, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1514607

ABSTRACT

BACKGROUND Leishmania RNA virus 1 (LRV1) is commonly found in South American Leishmania parasites belonging to the subgenus Viannia, whereas Leishmania RNA virus 2 (LRV2) was previously thought to be restricted to the Old-World pathogens of the subgenus Leishmania. OBJECTIVES In this study, we investigated the presence of LRV2 in strains of Leishmania (L.) infantum, the causative agent of visceral leishmaniasis (VL), originating from different hosts, clinical forms, and geographical regions. METHODS A total of seventy-one isolates were screened for LRV2 using semi-nested reverse transcription-polymerase chain reaction (RT-PCR) targeting the RNA-dependent RNA polymerase (RdRp) gene. FINDINGS We detected LRV2 in two L. infantum isolates (CUR268 and HP-EMO) from canine and human cases, respectively. MAIN CONCLUSIONS To the best of our knowledge, this is the first detection of LRV2 in the New World.

14.
Environ Technol ; : 1-8, 2022 Nov 10.
Article in English | MEDLINE | ID: mdl-36355390

ABSTRACT

In this article, the environmental sustainability of a circular economy concept applied to the management of biowaste was studied. To achieve this goal, the composting performance, compost-amended soil health, and phytotoxicity were assessed in the case of management of solid waste from a small swine slaughterhouse. Microorganisms present in a similar composting process were used as inoculums to improve the efficiency of composting. Addition of the inoculum promoted a faster and more efficient composting process than composting without the inoculum. The physical, chemical, and microbiological characteristics of soil were considered to be improved after compost application. Phytotoxicity tests in soils with and without compost amendment showed that a soil-compost mixture (90:10 and 70:30 mass ratios) was not phytotoxic to the plant species Sorghum saccharatum and Lepidium sativum, and that soil with compost showed higher plant biomass growth than that without compost amendment. The triple bottom line methodology used in this study can help in the assessment of circular economy activity in relation to the environmentally sustainable management of solid waste generated in small swine slaughterhouses.

15.
Article in English | MEDLINE | ID: mdl-36281981

ABSTRACT

The goal of this study was to assess the efficiency of antibiotic degradation applying different chemical treatment methods and their combinations. Thus, improvement in the efficiency of these methods when combined was quantified. The methods tested to degrade/mineralize the antibiotics amoxicillin (AMX) and ciprofloxacin (CIP) under different pH conditions (4, 7 and 10) were ultra-violet irradiation (UV254 nm), ultrasound (US), hydrogen peroxide (H2O2) and ozone (O3) alone and in combination. The results showed that individual methods were only partially efficient in the degradation/mineralization of antibiotics, except for ozonation at alkaline pH. In the combined methods, the best performance was obtained with US/UV/H2O2/O3 (pH 10, 20-min treatment), where the degradation rates for the antibiotics were 99.8% for CIP and 99.9% for AMX. For the mineralization efficiency the values obtained were 71.3% for CIP and 79.2% for AMX. The results of this study could contribute to the development and improvement of wastewater treatment aimed at avoiding the presence of residual antibiotics in the environment.


Subject(s)
Ozone , Water Pollutants, Chemical , Water Purification , Hydrogen Peroxide/chemistry , Water Pollutants, Chemical/analysis , Oxidation-Reduction , Amoxicillin , Ciprofloxacin/chemistry , Anti-Bacterial Agents/chemistry
16.
Front Vet Sci ; 9: 986269, 2022.
Article in English | MEDLINE | ID: mdl-36299636

ABSTRACT

The bladder urothelial carcinoma (UC) represents ~2% of malignant neoplasms in dogs and is a therapeutic challenge in veterinary medicine. Although it is considered the most common bladder cancer in dogs, few previous studies have investigated different markers that correlate with clinical and pathological parameters. Therefore, this study aimed to evaluate Caveolin-1, GATA-3, and Ki67 immunostaining in canine UC samples to evaluate their correlations with histopathological variables. Thirty tumor samples were obtained, and Caveolin-1, GATA-3, and Ki67 expression was assessed by immunohistochemistry and associated with pathological factors by univariate and multivariate analyses. Among the histopathological findings, lymphatic invasion was identified in 53.33% of the tumors, and the mean mitotic count (MC) was 31.82 ± 26.26. Caveolin-1 showed mild-to-high cytoplasmic expression in neoplastic cells, whereas GATA-3 showed mild-to-high nuclear expression. The Ki67 expression revealed a mean of 24.14 ± 16.88% positive cells. In the univariate analysis, no association was found between each marker and the pathological findings. On the other hand, in multivariate analysis, we identified a positive correlation between GATA-3 and MC and a negative correlation between Caveolin-1 and MC. Moreover, lymphatic invasion was positively correlated with histological type and grade, and negatively correlated with MC. In addition, the histological type was positively correlated with the histological grade. Overall, our results indicate that Caveolin-1 and GATA-3 expression could be promising markers for bladder UC aggressiveness.

17.
J Environ Sci Health B ; 57(9): 756-764, 2022.
Article in English | MEDLINE | ID: mdl-36039562

ABSTRACT

The composting process is an option for acceptable environmental management of cattle slaughterhouse by-products. The goals of this article were (i) to make a low-cost inoculum using popular supermarket ingredients and microorganisms that are already present in the composting environment, and (ii) to compare the efficiency of the composting process with and without the application of formulated inoculum. Initially, a consortium of microorganisms already present in the composting environment (Saccharomyces cerevisiae, Bacillus subtilis, and Rhodopseudomonas palustris) was prepared in a low-cost culture medium for use as an inoculum for the composting process. The composting process with the addition of the inoculum was more efficient than the composting process without the inoculum, in terms of both the chemical composition and the process efficiency, but mainly in relation to the time required for composting, with the mean times for decay of 50% of the windrows' temperature (taking in to account the difference between internal and external windrow temperatures) being 96 days without inoculum and 65 days with inoculum. Thus, inoculum made with low-cost supermarket products reduced the composting time and yielded compost of better quality.


Subject(s)
Composting , Abattoirs , Animals , Cattle , Soil/chemistry , Temperature
18.
Environ Technol ; : 1-9, 2022 Jul 18.
Article in English | MEDLINE | ID: mdl-35802062

ABSTRACT

This article seeks to characterize the bacterial profile of pediatric hospital wastewater samples collected at the outlet of a wastewater treatment plant, and to estimate their relative susceptibility to antimicrobial agents. A total of 64 strains were isolated in the wastewater samples, of which 49 were identified as belonging to different families: Enterobacteriaceae (e.g. Escherichia coli, Klebsiella sp., Citrobacter sp.) comprised 57.2% of the identified bacteria, non-Enterobacteriaceae (e.g. Aeromonas sp., Pseudomonas sp.) comprised 30.6%, and Streptococcaceae (e.g. Enterococcus sp.) comprised 12.2%. The tests of the susceptibility of the bacteria to the antimicrobial agents used in the hospital showed that 100% of the bacterial species found discharged in the hospital wastewater treatment system were resistant to one or more of the antimicrobial agents according to the criteria of the U.S. Clinical Laboratory Standards Institute/National Committee for Clinical Laboratory Standards. The antimicrobial agent tests showed that meropenem, norfloxacin, ciprofloxacin, levofloxacin, and cefepime were the most effective antimicrobials against bacteria of the Enterobacteriaceae family. For bacteria of the non-Enterobacteriaceae family, norfloxacin, ciprofloxacin, levofloxacin, and cefepime presented the most effective antimicrobial action, whereas for bacteria of the Streptococcaceae family, ampicillin, vancomycin, and gentamicin were the most effective antimicrobials. Hospital wastewater treatment plants could be considered as places of selection pressure for bacterial resistance because of the presence of antibiotic-resistant bacteria coming from sewers or created at the treatment plant.

19.
Genes (Basel) ; 13(5)2022 04 26.
Article in English | MEDLINE | ID: mdl-35627144

ABSTRACT

Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for RYR1 variants using Next-Generation Sequencing (NGS). We analyzed 27 patients from 19 unrelated families: four families (11 patients) with autosomal dominant inheritance (AD), two families (3 patients) with autosomal recessive (AR), and 13 sporadic cases. Biallelic RYR1 variants were found in six families (two AR and four sporadic cases) of the 14 molecularly analyzed families (~43%), suggesting a higher frequency of AR inheritance than expected. None of these cases presented a severe phenotype. Facial weakness was more common in biallelic than in monoallelic patients (p = 0.0043) and might be a marker for AR forms. NGS is highly effective for the identification of RYR1 variants in CCD patients, allowing the discovery of a higher proportion of AR cases with biallelic mutations. These data have important implications for the genetic counseling of the families.


Subject(s)
Myopathy, Central Core , Neuroblastoma , High-Throughput Nucleotide Sequencing , Humans , Myopathy, Central Core/genetics , Myopathy, Central Core/pathology , Pedigree , Retrospective Studies , Ryanodine Receptor Calcium Release Channel/genetics
20.
J Infect Dev Ctries ; 16(4): 675-682, 2022 04 30.
Article in English | MEDLINE | ID: mdl-35544630

ABSTRACT

INTRODUCTION: Leishmaniasis is a set of tropical diseases widely distributed throughout the world. Publications concerning different aspects of leishmaniasis have shown an increasing trend in recent years, especially in Brazil, where this disease has been under continuous expansion. The present study analyzes the data and assess trends in publications on leishmaniasis in Brazil and worldwide. METHODOLOGY: The bibliometric analysis was performed on the Scopus database, addressing data on scientific publications about leishmaniasis in the first nineteen years of the 21st century. The tendency of the annual number of publications was analyzed by mean of linear regression equations. RESULTS: The literature search identified 19.317 publications. Brazil was the country with the largest number of studies (24.88%). The annual growth rate for Brazilian publications was 4.66%, whereas worldwide publications grew 2.96%. The leading ten international authors contributed to 8.71% of the publications, whereas the ten principal Brazilian authors contributed to 4.31%. The largest collaboration network between authors was between Brazil and the United States. Oswaldo Cruz Foundation occupied the premier position in both worldwide and Brazilian ranking in number of publications. The international journal with the largest number of publications and SCImago Journal Rank indicator was PLOS Neglected Tropical Diseases. The Journal of Immunology had the highest H-index. Most of the research covered topics related to immunology and molecular biology. CONCLUSIONS: The data show relevant characteristics of the scientific production on leishmaniasis and demonstrate the fundamental role played by Brazil in the production of knowledge in this area of study.


Subject(s)
Leishmaniasis , Tropical Medicine , Bibliometrics , Brazil/epidemiology , Humans , Neglected Diseases , United States
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